A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023370



Internal ID18765903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7534725..7896858hg38UCSC Ensembl
Innerchr8:7392247..7754380hg19UCSC Ensembl
Innerchr8:7379657..7791790hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38362134
hg19362134
hg18412134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6940n100
Supporting Variantsnssv3680671, nssv3680670
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023370
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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